Disorders

Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation

Synonym(s): RS-SCID, SCID, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, with Sensitivity to Ionizing Radiation

OMIM

Gene	Locus	Protein
LIG4	13q33-q34	DNA ligase 4

Laboratory	Test Method	Prenatal	Carrier *
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA	• Sequence analysis of the entire coding region
Odense University Hospital, Department of Clinical Immunology - Odense C, Denmark	• Sequence analysis of the entire coding region

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.